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Gaucher disease type 2

Acute neuronopathic Gaucher's disease
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Gaucher disease type 2" returned 3 free, full-text review articles. First few results:
The clinical management of Type 2 Gaucher disease.
Last Updated: Mar 17, 2020

Gaucher disease, the inherited deficiency of the enzyme glucocerebrosidase, is the most common of the lysosomal storage disorders. Type 2 Gaucher disease, the most severe and progressive form, manifests either prenatally or in the first months of life, followed by death within the ...

Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
Last Updated: Oct 08, 2019

Gaucher disease (GD), the most common lysosomal storage disease, results from a deficiency of the lysosomal enzyme glucocerebrosidase. GD has been classified into 3 types, of which type 2 (the acute neuronopathic form) is the most severe, presenting pre- or perinatally, or in the ...

Type 2 Gaucher disease occurs in Ashkenazi Jews but is surprisingly rare.
Last Updated: Oct 08, 2019

Patients with Gaucher disease (GD) are divided into three types based on the presence and rate of progression of the neurologic manifestations. While type 1 GD has a strong predilection in the Jewish Ashkenazi population, both other types lack such a propensity. We report the occurrence ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Gaucher disease type 2" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Gaucher disease type 2" returned 22 free, full-text research articles. First few results:
Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2.
Last Updated: Jul 01, 2020

Gaucher disease type 2 (GD2) is defined by acute neurological decline, failure to thrive, and early demise. Currently, there is no clear standard for evaluating, staging, and counseling regarding neurological decline in GD2. Due to the high prevalence of progressive dysphagia secondary ...

Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial.
Last Updated: Apr 21, 2020

Eliglustat is a first-line oral therapy for adults with Gaucher disease type 1 (GD1) and poor, intermediate or extensive CYP2D6-metabolizer phenotypes (>90% of patients). We report the final results of a Phase 2 trial and extension (NCT00358150) in previously untreated adult GD1 patients ...

Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
Last Updated: Dec 11, 2018

Gaucher disease (GD) is one of the most common lysosomal storage diseases resulting from a deficiency of glucocerebrosidase. Three main types have been described, with type 2 being the most rare and severe form. Here we investigated the clinical symptoms and mutation spectrum in 20 ...

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22 Free Research Articles 59 Research Articles